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Intermediate phenotypes are traits positioned somewhere between genetic variation and disease. They represent a target for attempts to find disease-associated genetic variants and elucidation of mechanisms. Psychiatry has been particularly enamoured with intermediate phenotypes, due to uncertainty about disease aetiology, inconclusive results in early psychiatric genetic studies, and their appeal relative to traditional diagnostic categories. In this review, we argue that new genetic findings are relevant to the question of the utility of these constructs. In particular, results from genome-wide association studies of psychiatric disorders now allow an assessment of the potential role of particular intermediate phenotypes. Based on such an analysis, as well as other recent results, we conclude that intermediate phenotypes are likely to be most valuable in understanding mechanism.

Original publication




Journal article


Trends Neurosci

Publication Date





733 - 741


Chromosome Mapping, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Mental Disorders, Phenotype, Polymorphism, Single Nucleotide